Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.I26delFs

AAGAB

205 papers

RefSeq Summary

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with ty...

Pfam Domains

Adaptin_bindingaa 155–294UCSCAlpha and gamma adaptin binding protein p34

Gene Aliases

HGNC Name

alpha and gamma adaptin binding protein

HGNC Alias Symbols

FLJ11506; p34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024666.5
p.I26delFs
c.77delA
Surrounding Variants
1 paper
NM_024666.5
p.G28fs
c.82_83fs
2 papers
NM_024666.5
p.G28delFs
c.83delC
3 papers
NM_024666.5
p.E30K
c.88G>A
1 paper
NM_024666.5
p.V34M
c.100G>A
2 papers
NM_024666.5
p.S38A
c.112T>G
1 paper
NM_024666.5
p.S38S
c.114C>A
1 paper
NM_024666.5
p.A41T
c.121G>A
6 papers
NM_024666.5
p.W47*
c.140G>A
4 papers
NM_024666.5
p.W47*
c.141G>A
1 paper
NM_024666.5
p.K52E
c.154A>G
1 paper
NM_024666.5
p.Y53N
c.157T>A
1 paper
NM_024666.5
p.Y53*
c.159C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."